ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3066526861
Gene: PJVK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036167.1:p.Arg167Gly
CA1984210
NM_001042702.5:c.499C>G